Variant report

Variant	rs11111852
Chromosome Location	chr12:104331904-104331905
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	PML	chr12:104328577-104332758	K562	blood:	n/a	chr12:104331442-104331450
2	POLR2A	chr12:104328593-104332706	K562	blood:	n/a	n/a
3	POLR2A	chr12:104328660-104333717	K562	blood:	n/a	n/a
4	POLR2A	chr12:104324071-104347835	K562	blood:	n/a	n/a
5	TEAD4	chr12:104331862-104332670	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:104328917..104332179-chr12:104357230..104361045,4	MCF-7	breast:

Variant related genes	Relation type
HSP90B1	TF binding region
ENSG00000204954	Chromatin interaction
ENSG00000139372	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10861147	0.81[EUR][1000 genomes]
rs10861149	0.94[ASN][1000 genomes]
rs11111854	0.94[ASN][1000 genomes]
rs1165692	0.94[ASN][1000 genomes]
rs1165694	0.94[ASN][1000 genomes]
rs1165695	0.94[ASN][1000 genomes]
rs1165696	0.82[ASN][1000 genomes]
rs1177457	0.95[ASN][1000 genomes]
rs1179177	0.94[ASN][1000 genomes]
rs12227567	0.94[ASN][1000 genomes]
rs1437502	0.82[EUR][1000 genomes]
rs15805	0.94[ASN][1000 genomes]
rs2293617	0.92[ASN][1000 genomes]
rs2293618	0.92[ASN][1000 genomes]
rs2576975	0.94[ASN][1000 genomes]
rs2583254	0.96[ASN][1000 genomes]
rs2583262	0.95[ASN][1000 genomes]
rs2583264	0.94[ASN][1000 genomes]
rs2700505	0.94[ASN][1000 genomes]
rs2700508	0.94[ASN][1000 genomes]
rs2700509	0.94[ASN][1000 genomes]
rs2722190	0.94[ASN][1000 genomes]
rs2722191	0.90[ASN][1000 genomes]
rs2722192	0.94[ASN][1000 genomes]
rs4964375	0.97[ASN][1000 genomes]
rs703657	0.92[ASN][1000 genomes]
rs7645	0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv560039	chr12:104177668-104455340	Strong transcription Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
2	nsv427922	chr12:104325583-104523096	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:104325600-104348600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
2	chr12:104325600-104349800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr12:104325800-104333400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr12:104325800-104335200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr12:104325800-104348600	Strong transcription	Placenta	Placenta
6	chr12:104326000-104348800	Strong transcription	Fetal Muscle Leg	muscle
7	chr12:104326600-104348800	Strong transcription	Fetal Muscle Trunk	muscle
8	chr12:104326800-104344800	Strong transcription	H9 Cell Line	embryonic stem cell
9	chr12:104326800-104348800	Strong transcription	HUES48 Cell Line	embryonic stem cell
10	chr12:104326800-104348800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
11	chr12:104327000-104341600	Strong transcription	Skeletal Muscle Male	skeletal muscle
12	chr12:104327000-104348200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr12:104327000-104348600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
14	chr12:104327200-104332200	Genic enhancers	HepG2	liver
15	chr12:104327200-104341800	Strong transcription	Fetal Kidney	kidney
16	chr12:104327200-104345000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr12:104327200-104345400	Strong transcription	Placenta Amnion	Placenta Amnion
18	chr12:104327200-104348000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr12:104327200-104348200	Strong transcription	Cortex derived primary cultured neurospheres	brain
20	chr12:104327200-104348400	Strong transcription	Monocytes-CD14+_RO01746	blood
21	chr12:104327200-104348600	Strong transcription	H1 Cell Line	embryonic stem cell
22	chr12:104327200-104348600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr12:104327200-104348600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr12:104327200-104348600	Strong transcription	Primary monocytes fromperipheralblood	blood
25	chr12:104327200-104348600	Strong transcription	Primary neutrophils fromperipheralblood	blood
26	chr12:104327200-104348800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr12:104327200-104348800	Strong transcription	HUES64 Cell Line	embryonic stem cell
28	chr12:104327200-104349000	Strong transcription	HUES6 Cell Line	embryonic stem cell
29	chr12:104327200-104349200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr12:104327400-104340000	Strong transcription	iPS-15b Cell Line	embryonic stem cell
31	chr12:104327400-104348000	Strong transcription	Muscle Satellite Cultured Cells	--
32	chr12:104327400-104348000	Strong transcription	Skeletal Muscle Female	skeletal muscle
33	chr12:104327400-104348200	Strong transcription	HSMM	muscle
34	chr12:104327600-104332600	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr12:104327600-104333200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr12:104327800-104333200	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr12:104327800-104348400	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr12:104327800-104348400	Strong transcription	Primary B cells from cord blood	blood
39	chr12:104328000-104333400	Strong transcription	HSMMtube	muscle
40	chr12:104328000-104340600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
41	chr12:104328000-104341800	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
42	chr12:104328200-104344800	Strong transcription	Brain Substantia Nigra	brain
43	chr12:104328200-104348600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr12:104328200-104348800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr12:104328400-104333400	Strong transcription	Fetal Stomach	stomach
46	chr12:104328400-104335400	Weak transcription	Pancreatic Islets	Pancreatic Islet
47	chr12:104328400-104345400	Strong transcription	Hela-S3	cervix
48	chr12:104328400-104347000	Strong transcription	Fetal Brain Female	brain
49	chr12:104328400-104348200	Strong transcription	NHDF-Ad	bronchial
50	chr12:104328400-104348600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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